Nettore, 2013: Overview of all reported CHOR-NKX2-1 patients

Index patient Sex Ethnicity Country of origin AAO AAE Family history Symptoms Initial symptoms Reported mutations
No
n.a.
BRA
17
n.a.
Yes
Chorea
-Motor
Chorea
No
n.a.
BRA
n.a.
n.a.
Yes
Chorea
-Motor
Cognitive impairment
Hypothyroidism
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Chorea
Hypothyroidism
No
n.a.
BRA
n.a.
n.a.
Yes
-Motor
Chorea
Hypothyroidism
Chorea
No
n.a.
BRA
22
n.a.
Yes
Dystonia, cervical
-Motor
Chorea
Dystonia (any or unspecified)
Hypothyroidism
Dystonia
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Dystonia, cervical
Hypothyroidism
Yes
n.a.
BRA
n.a.
n.a.
Yes
Ataxia
-Motor
Chorea
Developmental delay
Cerebellar signs
Delayed gross motor development
Hypothyroidism
Delayed fine motor development
Gait impairment
Global developmental delay
Motor delay
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Chorea
Motor delay